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Variations in the NMDA receptor subunit 2B gene ( GRIN2B ) and schizophrenia: A case‐control study
Author(s) -
Di Maria Emilio,
Gulli Rossella,
Begni Silvia,
De Luca Alessandro,
Bignotti Stefano,
Pasini Augusto,
Bellone Emilia,
Pizzuti Antonio,
Dallapiccola Bruno,
Novelli Giuseppe,
Ajmar Franco,
Gennarelli Massimo,
Mandich Paola
Publication year - 2004
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.30028
Subject(s) - haplotype , single nucleotide polymorphism , genetics , genotype , schizophrenia (object oriented programming) , allele , nmda receptor , psychosis , biology , polymorphism (computer science) , gene , receptor , medicine , psychiatry
A well established model for the pathophysiology of schizophrenia postulates a role for the NMDA‐mediated glutamate transmission. The human gene coding for the 2B subunit of the NMDA receptor ( GRIN2B ) is considered a candidate based on its selective expression in brain. To evaluate the hypothesis that GRIN2B acts as a major gene in determining susceptibility to schizophrenia, a case‐control association study was performed. Five single nucleotide polymorphisms (SNPs) were genotyped in 188 Italian patients and 156 control subjects. The association study showed a marginally significant excess of homozygosity for the polymorphism located in the 3′UTR region ( P = 0.04). No other difference in genotype and allele frequencies was found in schizophrenics as compared to the control series. The case‐control study was also carried out on estimated haplotypes, confirming a trend for association ( P = 0.04). These results suggest that GRIN2B variations might be linked with susceptibility to schizophrenia. Replication studies on larger samples are warranted to further test this hypothesis. © 2004 Wiley‐Liss, Inc.